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Genetic characterization of cystic fibrosis patients in Russian Federation according to the National Register, 2014

https://doi.org/10.18093/0869-0189-2016-26-2-133-151

Abstract

The aim of this study was to investigate genetic features of patients with cystic fibrosis (CF) according to the National Register findings in Russia. Methods. The study involved 2,131 CF patients living in 74 regions of Russia who were included in the National Register of CF patients in 2014. Results. Genetic testing was performed in 89% of patients. The total mutant allele frequency was 81.2%. One hundred and twenty two mutations were found which comprised 173 genotypes; «mild» mutations took 23%. The most common mutant allele frequencies in the descending order were as follows: F508del, 51.53%; СFTRdele2,3, 5.93%; E92K, 2.62%; 3849+10kbC>T, 2.14%; 2184insA, 1.80%; W1282X, 1.80%; 2143delT, 1.69 %; N1303K, 1.43%; G542X, 1.16%; 1677delTA, 0.98%; L138ins, 0.95%; R334W, 0.85%; 394delTT, 0.85%; 3821delT, 0.42%; 2789+5G>A, 0.37%; S466X, 0.37%; S1196X, 0.37%; 3272-16T>A, 0.34%; W1282R, 0.29%; 3944delGT, 0.21%. Typical features of CFTR mutation distribution in Russian CF patients were lower frequency of mutations which are predominant worldwide, such as F508del, G542X, N1303K, and scarce G551D, 1717-1G>A, 2183AA>G mutations. On contrary, СFTRdele2,3, E92K, 2184insA, 2143delT, 1677delTA, L138ins mutations which are quite rare in Western Europe were encountered more often in Russia. «Mild» mutations were more common in Russian population of CF patients compared to European countries and have being increasing last years. Conclusion. Genetic features of Russian CF patients could be provided by Slavic, Turkic and Finno-Ugric genetic influence on Russian population.

About the Authors

S. A. Krasovskiy
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia: 32, build. 4, 11th Parkovaya str., Moscow, 105077, Russia;
Russian Federation

PhD, Senior Researcher at Laboratory of Cystic Fibrosis, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (495) 965-23-24;


N. Yu. Kashirskaya
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

MD, Professor, Principal Researcher at Laboratory of Genetic Epidemiology, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 320-60-90;


A. V. Chernyak
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia: 32, build. 4, 11th Parkovaya str., Moscow, 105077, Russia;
Russian Federation

PhD, Head of Laboratory of Functional and Ultra-sound Investigations; Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (495) 465-53-84;


E. L. Amelina
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia: 32, build. 4, 11th Parkovaya str., Moscow, 105077, Russia;
Russian Federation

PhD, Head of Laboratory of Cystic Fibrosis, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (499) 780-08-06;


N. V. Petrova
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

MD in Biology, Chief Scientist at Laboratory of Genetic Epidemiology, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 320-60-90;


A. V. Polyakov
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

MD in Biology, Professor, Head of DNA Diagnostics Laboratory, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 324-87-72;


E. I. Kondrat'eva
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

MD, Professor, Principal Researcher at Scientific and Clinical Division of Cystic Fibrosis, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 137-01-97;


A. Yu. Voronkova
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

PhD, Senior Researcher at Scientific and Clinical Division of Cystic Fibrosis, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 137-01-97;


M. V. Usacheva
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia: 32, build. 4, 11th Parkovaya str., Moscow, 105077, Russia;
Russian Federation

Researcher at Laboratory of Cystic Fibrosis, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (495) 965-23-24;


T. A. Adyan
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

PhD, Researcher at DNA Diagnosis Laboratory, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 324-87-72;


A. A. Stepanova
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

PhD, Researcher at DNA Diagnostics Laboratory, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 324-87-72;


I. L. Alimova
Smolensk State Medical University, Healthcare Ministry of Russia: 30V, Marshala Koneva str., Smolensk, 214019, Russia;
Russian Federation

MD, Professor, Head of Department of Hospital Pediatrics and Neonatology, Faculty of Postgraduate Physician Training, Smolensk State Medical University, Healthcare Ministry of Russia; tel.: (4812) 55-54-94;


I. K. Asherova
Pediatric State Clinical Hospital No.1: 12/76, Lenina av., Yaroslavl', 150003, Russia;
Russian Federation

MD, Head of Pulmonology Division, Pediatric State Clinical Hospital No.1; tel.: (4852) 25-24-43;


G. V. Baykova
Republic State Pediatric Clinical Hospital: 98, Stepana Kuvykina str., Ufa, 405106, the Republic of Bashkortostan;
Russian Federation

PhD, Head of Pulmonology Division, Republic State Pediatric Clinical Hospital; tel.: (347) 254-88-84;


A. V. Basilaya
Tula State Regional Clinical Hospital: 1a, Yablochkova str., Tula, 300000, Russia;
Russian Federation

MD, Professor, Head of Pulmonology Division, Tula State Regional Clinical Hospital; tel.: (4872) 48-49-54;


E. V. Boytsova
Academician I.P.Pavlov First Saint-Petersburg State Medical University, Healthcare Ministry of Russia: 12, Rentgena str., Saint-Petersburg, 197022, Russia;
Russian Federation

MD, Head of Laboratory of Pediatric Pulmonology Academician I.P.Pavlov First Saint-Petersburg State Medical University, Healthcare Ministry of Russia; tel.: (911) 739-00-22;


A. V. Borisov
V.D.Seredavin Samara State Regional Clinical Hospital: 159, Tashkentskaya str., Samara, 443095, Russia;
Russian Federation

Pulmonologist at Pulmonology Division, V.D.Seredavin Samara State Regional Clinical Hospital; tel.: (846) 956-43-11;


V. Yu. Brisin
State Pediatric Territorial Clinical Hospital, Healthcare Ministry of the Krasnodar krai: 1, Pobedy sq., Krasnodar, 350000, Russia;
Russian Federation

PhD, Head of Pulmonology Division, State Pediatric Territorial Clinical Hospital, Healthcare Ministry of the Krasnodar krai; tel.: (861) 262-64-54;


E. A. Vasil'eva
N.N. Ivanova Samara State City Pediatric Clinical Hospital No.1: 165A, Karla Marksa av., Samara, 443079, Russia;
Russian Federation

Pediatrician at Infectious Disease Division, N.N. Ivanova Samara State City Pediatric Clinical Hospital No.1; tel.: (846) 260-37-05;


T. G. Vasil'eva
Territorial State Clinical Center of Tertiary Medical Care: 30/37, Uborevicha str., Vladivostok, 690091, Russia;
Russian Federation

MD, Head of Territorial Pediatric Outpatient Counseling, Territorial State Clinical Center of Tertiary Medical Care; tel.: (423) 240-61-24;


E. V. Vodovozova
Stavropol’ State Medical University, Healthcare Ministry of Russia: 310, Mira str., Stavropol', 355017, Russia;
Russian Federation

PhD, Assistant Professor, Head of Department of Hospital Pediatrics, Stavropol’ State Medical University, Healthcare Ministry of Russia; tel.: (8652) 35-73-38;


S. V. Voronin
Territorial State Clinical Center of Tertiary Medical Care: 30/37, Uborevicha str., Vladivostok, 690091, Russia;
Russian Federation

PhD, Head of Territorial Medical and Genetic Counseling, Territorial State Clinical Center of Tertiary Medical Care; tel.: (423) 242-84-92;


I. N. Gaymolenko
Chita State Medical Academy, Healthcare Ministry of Russia: 39A, Gor'kogo str., Chita, 672090, Russia;
Russian Federation

MD, Professor, Head of Department of Hospital and Ambulatory Pediatrics, Chita State Medical Academy, Healthcare Ministry of Russia, tel.: (3022) 23-63-70;


O. I. Golubtsova
Republic Pediatric Clinical Hospital, Ministry of Health and Social Development of Chuvashiya: 27, Gladkova str., Cheboksary, 428020, the Republic of Chuvashiya;
Russian Federation

PhD, Head of Division of Pulmonology and Allergy, Republic Pediatric Clinical Hospital; tel.: (8352) 55-01-26;


Yu. V. Gorinova
Federal Academic Centre of Children's Health, Healthcare Ministry of Russia: 2, build.1, Lomonosovskiy av., Moscow, 119991, Russia;
Russian Federation

PhD, Senior Researcher at Division of Pulmonology and Allergy, Federal Academic Centre of Children's Health, Healthcare Ministry of Russia; tel.: (499) 134-93-31; 


L. P. Nazarenko
Federal Research Institute of Medical Genetics, Siberian Department of Russian Science Academy: 3, Moskovskiy tract, Tomsk, 634050, Russia;
Russian Federation

MD, Professor, Head of Laboratory of Hereditary Diseases, Federal Research Institute of Medical Genetics, Siberian Department of Russian Science Academy; tel.: (3822) 53-36-25;


O. N. Odinokova
Federal Research Institute of Medical Genetics, Siberian Department of Russian Science Academy: 3, Moskovskiy tract, Tomsk, 634050, Russia;
Russian Federation

PhD in Biology, Chief Scientist, Laboratory Geneticist at Federal Research Institute of Medical Genetics, Siberian Department of Russian Science Academy; tel.: (3822) 53-56-81;


T. E. Gembitskaya
Academician I.P.Pavlov First Saint-Petersburg State Medical University, Healthcare Ministry of Russia: 12, Rentgena str., Saint-Petersburg, 197022, Russia;
Russian Federation

MD, Professor, Head of Division of Therapeutic Pulmonology, Research Pulmonology Institute, Academician I.P.Pavlov First Saint-Petersburg State Medical University, Healthcare Ministry of Russia; tel.: (812) 234-13-83;


V. S. Nikonova
Federal Medical and Genetic Academic Center, Russian Academy of Medical Science: 1, Moskvorech'e str., Moscow, 1115478, Russia;
Russian Federation

PhD, Senior Researcher at Scientific and Clinical Division of Cystic Fibrosis, Federal Medical and Genetic Academic Center, Russian Academy of Medical Science; tel.: (499) 137-01-97;


A. A. D'yachkova
N.P.Ogarev National Research Mordovian State University: 68, Bol'shevistskaja str., Saransk, 430005, the Republic of Mordoviya;
Russian Federation

PhD, Associate Professor at Department of General Internal Medicine, N.P.Ogarev Mordovian State University; tel.: (8342) 76-10-34;


D. F. Sergienko
Astrakhan' State Medical Academy, Healthcare Ministry of Russia: 121, Bakinskaya str., Astrakhan', 414000, Russia;
Russian Federation

MD, Professor at General Pediatrics, Astrakhan' State Medical Academy, Healthcare Ministry of Russia; tel.: (8512) 52-41-43;


E. A. Enina
State Pediatric Territorial Clinical Hospital of Stavropol’ krai: 3, Semashko str., Stavropol’, 355029, Russia;
Russian Federation

PhD, Head of Pulmonology Division, State Pediatric Territorial Clinical Hospital of Stavropol’ krai; tel.: (903) 445-96-14;


M. V. Erzutova
Privolzhskiy Federal Medical Research Center, Healthcare Ministry of Russia: 18, Verkhne-Volzhskaya embankment, Nizhniy Novgorod, 603155, Russia;
Russian Federation

PhD, Researcher at Clinic of Gastroenterology and Metabolic Disease, Privolzhskiy Federal Medical Research Center, Healthcare Ministry of Russia; tel.: (831) 436-15-90;


Yu. S. Zinchenko
Saint-Petersburg Federal Research Institute of Phthisiology and Pulmonology, Healthcare Ministry of Russia: 2 – 4, Ligovskiy av.,Saint-Petersburg, 191036, Russia;
Russian Federation

Resident Physician at Saint-Petersburg Federal Research Institute of Phthisiology and Pulmonology, Healthcare Ministry of Russia; tel.: (921) 373-45-18;


O. G. Zonenko
N.I.Pirogov Russian State National Research Medical University, Healthcare Ministry of Russia: 1, Ostrovityanova str., Moscow, 117997, Russia;
Russian Federation

Assistant Lecturer at Academician V.A. Tabolin Hospital Pediatrics Department, N.I.Pirogov Russian State National Research Medical University, Healthcare Ministry of Russia; tel.: (495) 936-93-74;


D. M. Ivanova
Academician I.P.Pavlov First Saint-Petersburg State Medical University, Healthcare Ministry of Russia: 12, Rentgena str., Saint-Petersburg, 197022, Russia;
Russian Federation

Junior Researcher at Laboratory of Hospital Pediatrics, Academician I.P.Pavlov First Saint-Petersburg State Medical University, Healthcare Ministry of Russia; tel.: (812) 542-53-62;


N. A. Il'enkova
V.F.Voyno-Yasenetskiy Krasnoyarsk State Medical University, Healthcare Ministry of Russia: 1, Partizana Zheleznyaka str., Krasnoyarsk, 660022, Russia;
Russian Federation

MD, Professor, Head of Department of Pediatric Diseases, V.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Healthcare Ministry of Russia; tel.: (902) 940-48-71;


D. V. Kadyrova
State Republic Pediatric Clinical Hospital, Healthcare Ministry of the Republic of Tatarstan; Outpatient Counseling No.1: 140, Orenburgskiy tract, Kazan', 420138, the Republic of Tatarstan
Russian Federation

Pulmonologist at State Republic Pediatric Clinical Hospital, Healthcare Ministry of the Republic of Tatarstan; tel.: (905) 317-33-06;


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Review

For citations:

Krasovskiy S.A., Kashirskaya N.Yu., Chernyak A.V., Amelina E.L., Petrova N.V., Polyakov A.V., Kondrat'eva E.I., Voronkova A.Yu., Usacheva M.V., Adyan T.A., Stepanova A.A., Alimova I.L., Asherova I.K., Baykova G.V., Basilaya A.V., Boytsova E.V., Borisov A.V., Brisin V.Yu., Vasil'eva E.A., Vasil'eva T.G., Vodovozova E.V., Voronin S.V., Gaymolenko I.N., Golubtsova O.I., Gorinova Yu.V., Nazarenko L.P., Odinokova O.N., Gembitskaya T.E., Nikonova V.S., D'yachkova A.A., Sergienko D.F., Enina E.A., Erzutova M.V., Zinchenko Yu.S., Zonenko O.G., Ivanova D.M., Il'enkova N.A., Kadyrova D.V. Genetic characterization of cystic fibrosis patients in Russian Federation according to the National Register, 2014. PULMONOLOGIYA. 2016;26(2):133-151. (In Russ.) https://doi.org/10.18093/0869-0189-2016-26-2-133-151

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